P695: When routine testing is normal: Optical genome mapping identifies a hidden rearrangement in multigenerational family affected with split-hand/foot malformation
Abstract
The family was counseled that SHFM1 follows autosomal dominant inheritance, with a 50% recurrence risk and variable expression, even within the same family. The proband was referred to orthopedic surgery and hand reconstruction specialists, occupational and physical therapy for functional support, audiology for baseline evaluation due to the risk of hearing loss. Cascade genetic testing was recommended for additional at-risk relatives to determine carrier status and provide informed reproductive counseling.
Fields of Study & Subjects
Congenital limb and hand anomalies
Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 104185–104185
- Publication date
- 1 January 2026
- Language
- EN